Product Details

SNP ID
rs146657444
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:137428118 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCGACTACACGCAGCTGGGCCTG[C/T]GGTTCAAGCTGCAAGCCTGGGAGGT
Phenotype
MIM: 616748 MIM: 611255
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ENTPD8 PubMed Links

Gene Details

Gene
ENTPD8
Gene Name
ectonucleoside triphosphate diphosphohydrolase 8
There are no transcripts associated with this gene.

Gene
EXD3
Gene Name
exonuclease 3'-5' domain containing 3
There are no transcripts associated with this gene.

Gene
NOXA1
Gene Name
NADPH oxidase activator 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256067.1 499 Silent Mutation CGG,TGG R116W NP_001242996.1
NM_001256068.1 499 Silent Mutation CGG,TGG R116W NP_001242997.1
NM_006647.1 499 Silent Mutation CGG,TGG R116W NP_006638.1
XM_011518158.2 499 Missense Mutation CGG,TGG R116W XP_011516460.1
XM_011518159.1 499 UTR 5 XP_011516461.1
XM_011518160.1 499 UTR 5 XP_011516462.1
XM_017014220.1 499 Intron XP_016869709.1

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